Canonical Allele Identifier: CA16606562
Gene: TUBA1A HGNC NCBI

Linked Data

ClinVar Variation Id: 379329
ClinVar RCV Id: RCV000423889 RCV000767454
dbSNP Id: rs1057520574
MyVariant Identifiers: chr12:g.49580603G>C (hg19) chr12:g.49186820G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.49186820G>C , CM000674.2:g.49186820G>C GRCh38
NC_000012.11:g.49580603G>C , CM000674.1:g.49580603G>C GRCh37
NC_000012.10:g.47866870G>C NCBI36
NG_008966.1:g.7259C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000301071.12:c.17C>G MANE Select ENSP00000301071.7:p.Ser6Cys
ENST00000547939.6:c.-89C>G ENSP00000450268.2:n.-89C>G
ENST00000550767.6:c.-89C>G ENSP00000446637.1:n.-89C>G
ENST00000550811.2:n.1050C>G
ENST00000552924.2:c.-89C>G ENSP00000448725.2:n.-89C>G
ENST00000679733.1:c.17C>G ENSP00000505459.1:p.Ser6Cys
ENST00000295766.9:c.17C>G ENSP00000439020.2:p.Ser6Cys
ENST00000301071.11:c.17C>G ENSP00000301071.7:p.Ser6Cys
ENST00000546918.1:c.17C>G ENSP00000446613.1:p.Ser6Cys
ENST00000547939.5:c.-89C>G ENSP00000450268.1:n.-89C>G
ENST00000548363.1:n.21C>G
ENST00000550254.1:n.39C>G
ENST00000550767.5:c.-89C>G ENSP00000446637.1:n.-89C>G
ENST00000550811.1:c.-89C>G ENSP00000449016.1:n.-89C>G
ENST00000552924.1:c.-89C>G ENSP00000448725.1:n.-89C>G
NM_001270399.1:c.17C>G NP_001257328.1:p.Ser6Cys
NM_001270400.1:c.-89C>G NP_001257329.1:n.-89C>G
NM_006009.3:c.17C>G NP_006000.2:p.Ser6Cys
NM_006009.4:c.17C>G MANE Select NP_006000.2:p.Ser6Cys
NM_001270399.2:c.17C>G NP_001257328.1:p.Ser6Cys
NM_001270400.2:c.-89C>G NP_001257329.1:n.-89C>G
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